期刊
HEREDITARY CANCER IN CLINICAL PRACTICE
卷 5, 期 4, 页码 183-194出版社
BMC
DOI: 10.1186/1897-4287-5-4-183
关键词
hereditary diffuse gastric cancer; CDH1; germline mutation; clinical management; early development
类别
Hereditary diffuse gastric cancer (HDGC) is the only known predisposition syndrome dominated by carcinoma of the stomach and with a recognised genetic cause. Germline mutations in the E-cadherin gene (CDH1) co-segregate with the disease in about half of the families with multiple diffuse gastric cancer. In these families, identification of the CDH1 mutation allows for clinical measures to be taken. Importantly, clinical intervention is likely to be therapeutic and associated with tolerable morbidity. This review is thus aimed at providing a current overview of the clinical management and the underlying biology of HDGC.
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